Summary
A case of acid maltase deficiency with myopathy in a 19 year old male, which appeared clinically as atypical muscular dystrophy, is described. The electromyogram showed both myopathic changes and high-frequency discharges from the affected muscle fibres. The biochemical tests on a muscle homogenate revealed an increase in glycogen, an almost total absence of acid-maltase and diminished phosphofruktokinase. Histologically, glycogen was stored predominantly in the vacuoles of the myofibrils. Electronmicroscopy revealed electron-opaque bodies and glycogen storage.
All findings supported the diagnosis of myopathy with glycogen storage malfunction following acid-maltase deficiency (Pompe's disease in adolescence). The typical form of glycogenosis is the infantile type; the more benign form appearing in adolescents and adults may be more common than is generally supposed.
Zusammenfassung
Das klinisch atypische Verteilungsmuster einer Myopathie bei einem 19jährigen Mann, zunächst für eine Erbsche Muskeldystrophie gehalten, veranlaßte zu umfangreicher Diagnostik, die eine juvenile Glykogenose ergab. Das Elektromyogramm zeigte sowohl myopathische Veränderungen als auch erheblich gesteigerte Excitabilität der Muskelfasern. Die biochemischen Untersuchungen eines Muskelhomogenats ergaben neben deutlich vermehrtem Glykogen ein fast völliges Fehlen der Sauren Maltase. Histologisch wurde in den Myofibrillen vorwiegend vacuolär gespeichertes Glykogen nachgewiesen. Elektronenoptisch fanden sich neben den Glykogenspeicherungen opake Ablagerungen, die als lysosomal gedeutet werden. Alle Befunde sicherten die Diagnose einer Myopathie bei Glykogenspeicherkrankheit infolge Saure-Maltase-Mangel (juvenile Eorm der Pompeschen Erkrankung). Neben der bekannten frühkindlichen Glykogenose scheint die beschriebene benignere Verlaufsform im jugendlichen- und Erwachsenenalter häufiger vorzukommen, als allgemein angenommen.
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Kölmel, H.W., Assmus, H. & Seiler, D. Myopathie bei Saure-Maltase-Mangel. Arch. Psychiat. Nervenkr. 218, 93–106 (1974). https://doi.org/10.1007/BF00343162
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DOI: https://doi.org/10.1007/BF00343162